A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694450



Internal ID21720771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100087028..100087028hg38UCSC Ensembl
chr9:102849310..102849310hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17231073, nssv17187717
Samples
Known GenesERP44
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5694450
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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